Term Name: hereditary spastic paraplegia 50
Synonyms: adaptor protein complex 4 deficiency, AP-4 deficiency syndrome, AP-4-Associated Hereditary Spastic Paraplegia, autosomal recessive spastic paraplegia 50, CPSQ3, SPG50
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.
Ontology: Human Disease [DOID:0110802]   ( DOID:0110802 )

Relationships
is a type of: autosomal recessive disease hereditary spastic paraplegia